Khalid Al Thihli

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

Nonketotic Hyperglycinemia: Two Case Reports and Review

Rajesh Poothrikovil, Amna Al Futaisi, Khalid Al Thihli, 2019, The Neurodiagnostic journal.

EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance

Rajesh Poothrikovil, Amna Al Futaisi, Khalid Al Thihli, 2021, The Neurodiagnostic journal.

Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate

A. Ganesh, A. Al-Mujaini, Khalid Al Thihli, 2021, Ophthalmic genetics.

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

A. Ganesh, Sana Al Zuhaibi, Khalid Al Thihli, 2017, Ophthalmic genetics.